Ulnar–mammary syndrome or Schinzel syndrome is a
cutaneous
Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation.
Other animal coverings, such as the arthropod exoskeleton, have different d ...
(or skin) condition characterized by
nipple and breast hypoplasia (or aplasia), i.e. underdevelopment.
Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development of the fingers and forearm), underdevelopment of the
apocrine
Apocrine () is a term used to classify the mode of secretion of exocrine glands. In apocrine secretion, secretory cells accumulate material at their apical ends, often forming blebs or "snouts", and this material then buds off from the cells ...
and
mammary gland
A mammary gland is an exocrine gland that produces milk in humans and other mammals. Mammals get their name from the Latin word ''mamma'', "breast". The mammary glands are arranged in organs such as the breasts in primates (for example, human ...
s (leading to absent breast development and the inability to produce breast milk), and various genital abnormalities. Other signs and symptoms may include hormonal deficiencies, delayed puberty (particularly in males), dental problems and obesity. People with UMS may have distinct facial features, including a wide face tapering to a prominent chin, and a broad nose.
Genetics
It has been associated with
TBX3
T-box transcription factor TBX3 is a protein that in humans is encoded by the ''TBX3'' gene.
T-box 3 (TBX3) is a member of the T-box gene family of transcription factors which all share a highly conserved DNA binding domain known as the T-box. Th ...
.
This gene is located on the long arm of
chromosome 12
Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the tot ...
(12q24.21).
Another gene that has been associated with this condition is
SYNM.
[Zlotina A, Kiselev A, Sergushichev A, Parmon E, Kostareva A (2018) Rare case of ulnar-mammary-like syndrome With left ]ventricular tachycardia
Ventricular tachycardia (V-tach or VT) is a cardiovascular disorder in which fast heart rate occurs in the ventricles of the heart. Although a few seconds of VT may not result in permanent problems, longer periods are dangerous; and multiple ...
and lack of TBX3 mutation. Front Genet 9:209 This gene is located on the long arm of
chromosome 15
Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 15 spans about 99.7 million base pairs (the building material of DNA) and represents between 3% and 3.5% of the total DNA ...
(15q26.3).
See also
*
Carvajal syndrome
Carvajal (also spelled Carbajal) is a Spanish surname and place name. Notable people with the surname include:
* Ailem Carvajal Gómez (born 1972), Cuban composer and pianist
* Alfonso Carvajal (writer) (born 1958), Colombian writer and editor
* ...
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function o ...
References
External links
{{DEFAULTSORT:Ulnar-mammary syndrome
Genodermatoses
Transcription factor deficiencies
Syndromes
Rare syndromes